R KochDepartment of Pediatrics and Radiology, Childrens Hospital of Los Angeles and the University of Southern California School of Medicine, Los Angeles, California 90027, USAPediatrics 106:1093-6. 2000

R KochDepartment of Pediatrics and Radiology, Childrens Hospital of Los Angeles and the University of Southern California School of Medicine, Los Angeles, California 90027, USAPediatrics 106:1093-6. 2000

..The level of blood Phe decreased after BH4 treatment in all of the patients. These studies suggest that mutations in the regulatory domain also responded to BH4 even if the patient had classical PKU...

Neuropathology of a 4-month-old infant born to a woman with phenylketonuria

..Two subjects were diagnosed with clinical depression and were in counseling programs at initiation of the study. At the end of the study all patients reported increased energy and overall improvement in well-being...

..It is more likely that mutations with residual activity should respond to BH4, therefore the clinical definition of "Classical PKU" should be reconciled with the residual activity of PAH mutations...

Impact of the phenylalanine hydroxylase gene on maternal phenylketonuria outcome

..A major issue in maternal phenylketonuria (MPKU) has been whether maternal non-PKU mild hyperphenylalaninemia (MHP) is teratogenic. Such untreated pregnancies and their outcomes are presented on this report...

Mutations in the phenylalanine hydroxylase gene identified in 95 patients with phenylketonuria using novel systems of mutation scanning and specific genotyping based upon thermal melt profiles

..Two mutations were identified in 93 of the 95 patients assessed and in the remaining two patients a single mutation was identified. Melt profiling provided 99% sensitivity to identify sequence variants in the PAH gene...

Inter-individual variation in brain phenylalanine concentration in patients with PKU is not caused by genetic variation in the 4F2hc/LAT1 complex

b>Richard Koch(1) became known in the 1920s with works on basic medical theory. Among these publications, the character of medical action and its status within the theory of science was presented as the most important theme...

b>Richard Koch first made his appearance in the 1920s with works published on the foundations of medicine. These publications describe the character of medicine as an action and the status of medicine within the theory of science...

[Richard Koch's life in national socialism and in Soviet emigration]

Daniela BoltresMedizinhist J 41:157-86. 2006

The Jewish historian and theorist of medicine, Richard Koch, teaching in Frankfurt/Main, fled in 1936 from National Socialist Germany to the USSR where he lived in the Caucasian spa Essentuki until his death in 1949...